Autosomal recessive spastic ataxia 4
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 254343
Definition
A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
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| Hyperreflexia |
| Advanced ossification of carpal bones |
| Partial agenesis of the corpus callosum |
| Male hypogonadism |
| Midline defect of the nose |
| Babinski sign |
| Dysarthria |
| Optic atrophy |
| Spastic paraparesis |
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Hyporeflexia |
| Emotional lability |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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